rs397517983

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs397517983(C;T)

Make rs397517983(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

215675043

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs397517983
dbSNP (classic)	rs397517983
ClinGen	rs397517983
ebi	rs397517983
HLI	rs397517983
Exac	rs397517983
Gnomad	rs397517983
Varsome	rs397517983
LitVar	rs397517983
Map	rs397517983
PheGenI	rs397517983
Biobank	rs397517983
1000 genomes	rs397517983
hgdp	rs397517983
ensembl	rs397517983
geneview	rs397517983
scholar	rs397517983
google	rs397517983
pharmgkb	rs397517983
gwascentral	rs397517983
openSNP	rs397517983
23andMe	rs397517983
SNPshot	rs397517983
SNPdbe	rs397517983
MSV3d	rs397517983
GWAS Ctlg	rs397517983

Max Magnitude

0

ClinVar
Risk	rs397517983(T;T)
Alt	rs397517983(T;T)
Reference	Rs397517983(C;C)
Significance	Pathogenic
Disease	Usher syndrome
Variation	info
Gene	USH2A
CLNDBN	Usher syndrome, type 2A
Reversed	1
HGVS	NC_000001.10:g.215848385G>A
CLNSRC	ClinVar
CLNACC	RCV000041731.2,